Variant report

Variant	nsv570250
Chromosome Location	chr15:82677472-82691352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr15:82681500-82681862	K562	blood:	n/a	n/a
2	CTCF	chr15:82685013-82685038	GM13976	blood:	n/a	n/a
3	CTCF	chr15:82688568-82688588	LNCaP	prostate:	n/a	n/a
4	CTCF	chr15:82685019-82685042	Medullo	brain:	n/a	n/a
5	CTCF	chr15:82685060-82685076	Medullo	brain:	n/a	n/a
6	EBF1	chr15:82677407-82677624	GM12878	blood:	n/a	n/a
7	FOXA1	chr15:82690072-82690418	HepG2	liver:	n/a	n/a
8	GABPA	chr15:82677440-82677541	HepG2	liver:	n/a	n/a
9	GATA2	chr15:82680336-82680719	K562	blood:	n/a	chr15:82680503-82680510
10	GATA2	chr15:82681440-82681895	K562	blood:	n/a	n/a
11	GATA2	chr15:82679515-82679808	K562	blood:	n/a	chr15:82679580-82679587 chr15:82679707-82679723 chr15:82679580-82679587 chr15:82679580-82679587 chr15:82679705-82679726 chr15:82679573-82679594
12	NR2F2	chr15:82681488-82681897	K562	blood:	n/a	n/a
13	NR2F2	chr15:82681340-82682002	K562	blood:	n/a	n/a
14	NR3C1	chr15:82688226-82688547	ECC-1	luminal epithelium:	n/a	n/a
15	PAX5	chr15:82685274-82685693	GM12878	blood:	n/a	n/a
16	PAX5	chr15:82688251-82688477	GM12878	blood:	n/a	n/a
17	PAX5	chr15:82688252-82688511	GM12878	blood:	n/a	n/a
18	PAX5	chr15:82685313-82685585	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:82678713-82678847	A549	lung:	n/a	n/a
20	POLR2A	chr15:82681682-82681783	K562	blood:	n/a	n/a
21	RXRA	chr15:82690101-82690317	HepG2	liver:	n/a	n/a
22	SP1	chr15:82690071-82690378	HepG2	liver:	n/a	chr15:82690109-82690118
23	STAT5A	chr15:82681466-82681892	K562	blood:	n/a	n/a
24	STAT5A	chr15:82681453-82681858	K562	blood:	n/a	n/a
25	TRIM28	chr15:82681469-82681869	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGA6L9-2	chr15:82684055-82684164	NONHSAT047779

Variant related genes	Relation type
UBE2Q2P2	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373876751	chr15:82680457-82680458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200016279	chr15:82680677-82680678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549331711	chr15:82680717-82680718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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